The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

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Bach G, Eisenberg F Jr, Cantz M, Neufeld EF

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134-8.

PubMed ID

4269173 [ View in PubMed

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Abstract

Skin fibroblasts cultured from patients affected with the Hunter syndrome are deficient in the activity of a protein, named the "Hunter corrective factor," that is required for degradation of dermatan and heparan sulfates. We now show that this factor, purified from human urine, removes about 2% of the sulfate residues from [(35)S]mucopolysaccharide accumulated within Hunter fibroblasts; these groups are derived from "oversulfated" regions of the polymer. Acetone-powder extracts of fibroblasts derived from patients with the Hunter syndrome are deficient in this sulfatase, in contrast to similar extracts from fibroblasts of individuals of other genotype. Hunter corrective factor coupled to alpha-L-iduronidase (or alternatively, mixed extracts from Hurler and Hunter fibroblasts) release iduronic acid from 4-O-alpha-L-sulfoiduronosyl-D-sulfoanhydromannose. We conclude that the Hunter corrective factor is a sulfatase for sulfated iduronic acid residues.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Laronidase	Iduronic acid	Small molecule	Humans	Yes	Other/unknown	Details